Canonical Allele Identifier: CA2400692534

Gene: NF2

Linked Data

• dbSNP Id: rs2067518788

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695287_29695289del , CM000684.2:g.29695287_29695289del	GRCh38
NC_000022.10:g.30091276_30091278del , CM000684.1:g.30091276_30091278del	GRCh37
NC_000022.9:g.28421276_28421278del	NCBI36
NG_009057.1:g.96732_96734del , LRG_511:g.96732_96734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*485_*487del MANE Select	ENSP00000344666.5:n.*485_*487del
ENST00000672461.1:c.*501+44_*501+46del	ENSP00000500919.1:n.*501+44_*501+46del
ENST00000672896.1:c.*545_*547del	ENSP00000500117.1:n.*545_*547del
ENST00000338641.8:c.*485_*487del	ENSP00000344666.4:n.*485_*487del
ENST00000361452.8:c.*545_*547del	ENSP00000354897.4:n.*545_*547del
ENST00000413209.6:c.*485_*487del	ENSP00000409921.2:n.*485_*487del
NM_000268.3:c.*485_*487del , LRG_511t1:c.*485_*487del	NP_000259.1:n.*485_*487del
NM_016418.5:c.*545_*547del , LRG_511t2:c.*545_*547del	NP_057502.2:n.*545_*547del
NM_181828.2:c.*545_*547del	NP_861966.1:n.*545_*547del
NM_181829.2:c.*545_*547del	NP_861967.1:n.*545_*547del
NM_181830.2:c.*545_*547del	NP_861968.1:n.*545_*547del
NM_181832.2:c.*560_*562del	NP_861970.1:n.*560_*562del
NM_181833.2:c.*485_*487del	NP_861971.1:n.*485_*487del
NR_156186.1:n.2832_2834del
XM_017028810.1:c.*545_*547del	XP_016884299.1:n.*545_*547del
NM_000268.4:c.*485_*487del MANE Select	NP_000259.1:n.*485_*487del
NM_181828.3:c.*545_*547del	NP_861966.1:n.*545_*547del
NM_181829.3:c.*545_*547del	NP_861967.1:n.*545_*547del
NM_181830.3:c.*545_*547del	NP_861968.1:n.*545_*547del
NM_181832.3:c.*560_*562del	NP_861970.1:n.*560_*562del
NR_156186.2:n.2755_2757del
NM_181833.3:c.*485_*487del	NP_861971.1:n.*485_*487del